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MCID: PHC018
MIFTS: 38

Phace Association

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Phace Association

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MalaCards integrated aliases for Phace Association:

Name: Phace Association 56 74 52 71
Phace Syndrome 52 58 6
Pascual-Castroviejo Syndrome Type 2 52 58
Phaces Association 56 52
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 52
Pascual-Castroviejo Type Ii Syndrome 52
Aortic Aneurysm, Giant Congenital 56
P-Ciis 52

Characteristics:

Orphanet epidemiological data:

58
phace syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities
87% patients are female


HPO:

31
phace association:
Inheritance sporadic x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Phace Association

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NIH Rare Diseases : 52 PHACE syndrome is the association of a large hemangioma , usually on the face or neck, in combination with one or more other birth defects . People with PHACE syndrome may have P osterior fossa brain malformations, H emangioma, A rterial lesions (blood vessel abnormalities in the head or neck), C ardiac (heart) abnormalities/aortic coarctation , and E ye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys. Treatment is based on the signs and symptoms present in the person.

MalaCards based summary : Phace Association, also known as phace syndrome, is related to cerebral cortical dysplasia and sternal cleft, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). The drug Dermatologic Agents has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are abnormal cerebral artery morphology and optic nerve hypoplasia

OMIM : 56 PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011). (606519)

Wikipedia : 74 PHACE Syndrome is a cutaneous condition characterized by multiple congenital abnormalities. The mnemonic... more...

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Related Diseases for Phace Association

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Diseases related to Phace Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 cerebral cortical dysplasia 10.4
2 sternal cleft 10.4
3 hemangioma 10.3
4 congenital hypothyroidism 10.3
5 posterior fossa malformation 10.3
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
7 subglottic angioma 10.2
8 transient cerebral ischemia 10.2
9 dandy-walker syndrome 10.1
10 horner's syndrome 10.1
11 heart septal defect 10.1
12 capillary hemangioma 10.1
13 pituitary gland disease 10.1
14 glial tumor 10.1
15 gastroenteritis 10.1
16 cerebral cavernous malformations 10.0
17 retinoblastoma 10.0
18 strabismus 10.0
19 tetralogy of fallot 10.0
20 arterial tortuosity syndrome 10.0
21 persistent hyperplastic primary vitreous, autosomal recessive 10.0
22 moyamoya disease 1 10.0
23 ptosis 10.0
24 hypogonadotropic hypogonadism 10.0
25 sensorineural hearing loss 10.0
26 pre-eclampsia 10.0
27 microphthalmia 10.0
28 hydrocephalus 10.0
29 placenta praevia 10.0
30 arteriovenous malformation 10.0
31 eclampsia 10.0
32 ventricular septal defect 10.0
33 hypogonadism 10.0
34 familial retinoblastoma 10.0
35 hypogonadotropism 10.0
36 cataract 10.0
37 mechanical strabismus 10.0
38 exophthalmos 10.0
39 aortic arch interruption 10.0
40 glioma 10.0
41 dysphagia 10.0
42 ectopia cordis 10.0
43 congenital oculomotor nerve palsy 10.0
44 hypopituitarism 10.0
45 coloboma of macula 9.9
46 lacrimal duct defect 9.9
47 marfan syndrome 9.9
48 pectus excavatum 9.9
49 uvula, bifid 9.9
50 wilms tumor 1 9.9

Graphical network of the top 20 diseases related to Phace Association:



Diseases related to Phace Association
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Symptoms & Phenotypes for Phace Association

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Human phenotypes related to Phace Association:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cerebral artery morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0009145
2 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
3 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
4 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
5 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
6 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
7 cerebral arteriovenous malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002408
8 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
9 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
10 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
11 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
12 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
13 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
16 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
17 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
18 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
19 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
20 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
21 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
22 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
23 visceral angiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100761
24 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
25 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
26 sclerocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000647
27 abnormality of the sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000766
28 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
29 lens coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100719
30 ectopic thyroid 58 31 occasional (7.5%) Occasional (29-5%) HP:0100028
31 retinal vascular malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007797
32 abnormality of the orbital region 31 occasional (7.5%) HP:0000315
33 abnormal carotid artery morphology 31 occasional (7.5%) HP:0005344
34 ventricular septal defect 31 HP:0001629
35 optic atrophy 31 HP:0000648
36 patent ductus arteriosus 31 HP:0001643
37 migraine 31 HP:0002076
38 developmental cataract 31 HP:0000519
39 abnormal heart morphology 58 Frequent (79-30%)
40 abnormality of the carotid arteries 58 Occasional (29-5%)
41 arterial stenosis 31 HP:0100545
42 aortic aneurysm 31 HP:0004942
43 congenital hypothyroidism 31 HP:0000851
44 horner syndrome 31 HP:0002277
45 abnormality of the ocular region 58 Occasional (29-5%)
46 cavernous hemangioma of the face 31 HP:0007486
47 anomalous branches of internal carotid artery 31 HP:0005314
48 plaque-like facial hemangioma 31 HP:0007434
49 increased retinal vascularity 31 HP:0007986
50 lingual thyroid 31 HP:0100029

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
dandy-walker malformation
developmental delay
migraine headaches (ipsilateral to facial hemangioma)
more
Head And Neck Eyes:
optic atrophy
optic nerve hypoplasia
increased retinal vascularity
congenital cataract
horner's syndrome
more
Head And Neck Face:
facial hemangioma

Respiratory Larynx:
subglottic hemangioma

Abdomen External Features:
supraumbilical abdominal raphe

Cardiovascular Heart:
ventricular septal defect

Cardiovascular Vascular:
patent ductus arteriosus
arterial stenosis
anomalous branches of internal carotid artery
coarctation of the aorta
steal syndrome
more
Endocrine Features:
congenital hypothyroidism
lingual thyroid

Chest Ribs Sternum Clavicles And Scapulae:
sternal clefting
sternal pits

Skin Nails Hair Skin:
hemangioma, facial, plaque-like

Clinical features from OMIM:

606519

UMLS symptoms related to Phace Association:


seizures
Sources

Drugs & Therapeutics for Phace Association

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Drugs for Phace Association (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
2 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
3 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756

Search NIH Clinical Center for Phace Association

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Genetic Tests for Phace Association

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Anatomical Context for Phace Association

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MalaCards organs/tissues related to Phace Association:

40
Brain, Eye, Heart, Thyroid, Skin, Pituitary, Kidney
Sources

Publications for Phace Association

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Articles related to Phace Association:

(show top 50) (show all 202)
# Title Authors PMID Year
1
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. 61 56
21674285 2011
2
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. 61 56
20705698 2010
3
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. 61 56
19858157 2009
4
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. 61 56
16575892 2006
5
Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. 61 56
15006868 2004
6
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. 61 56
12116239 2002
7
The many faces of PHACE syndrome. 61 56
11445804 2001
8
PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. 61 56
10485544 1999
9
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. 61 56
8607636 1996
10
Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review. 56
10678663 2000
11
Sternal cleft associated with vascular anomalies and micrognathia. 56
8328853 1993
12
Aneurysm of the ascending aorta associated with sternal cleft, cutaneous hemangioma, and occlusion of the right innominate artery in a neonate. 56
3541557 1987
13
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. 56
740218 1978
14
PHACE Syndrome: A Rare Case. 61
31976140 2020
15
Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes. 61
31631401 2020
16
Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome. 61
31825455 2019
17
A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions. 61
31473685 2019
18
Dieulafoy lesions and PHACE syndrome. 61
31359449 2019
19
Intrathoracic hybrid lesion: an incidental finding in a patient with PHACE syndrome. 61
31780601 2019
20
Infantile hemangioma of the upper lip and enamel hypoplasia: Two case reports. 61
31468572 2019
21
Facial segmental haemangioma with PHACE Syndrome successfully treated with oral propranolol. 61
31649228 2019
22
Natural history of PHACE syndrome: A survey of adults with PHACE. 61
31222913 2019
23
Endocrine manifestations of PHACE syndrome. 61
31323007 2019
24
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. 61
31037424 2019
25
Dental root abnormalities in four children with PHACE syndrome. 61
30933385 2019
26
Persistent stapedial artery in PHACE syndrome. 61
30876851 2019
27
PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery. 61
31090165 2019
28
Surgery on a dilated aorta associated with a connective tissue disease or inflammatory vasculitis in children and adolescents. 61
31111802 2019
29
Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization. 61
30717056 2019
30
Late growth of infantile hemangiomas in children >3 years of age: A retrospective study. 61
30293898 2019
31
Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome. 61
31956451 2019
32
Ocular Complications in PHACE Syndrome: A True Association or a Coincidence? 61
30270159 2019
33
PHACE syndrome and hearing loss. 61
31644633 2019
34
Transient ischemic attack in elderly patient with PHACE syndrome. 61
31637089 2019
35
PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause. 61
30580483 2018
36
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
37
Distal aortic arch aneurysm in an adult case of PHACE syndrome. 61
29672688 2018
38
Hearing loss in PHACE syndrome: clinical and radiologic findings. 61
29748705 2018
39
Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome. 61
29984853 2018
40
Regarding: "Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery". 61
29853523 2018
41
Infantile hemangiomas: what have we learned from propranolol? 61
29846253 2018
42
PHACE syndrome: clinical manifestations, diagnostic criteria, and management. 61
29924216 2018
43
Open resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome. 61
29605352 2018
44
Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery. 61
29545249 2018
45
PHACE Syndrome-before and after Propranolol Therapy. 61
29221694 2018
46
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. 61
29171184 2018
47
Holmes heart and tetralogy of Fallot in association with PHACE. 61
29243304 2018
48
Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma. 61
30336486 2018
49
Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature. 61
28887276 2017
50
[What's new in pediatric dermatology?] 61
29249250 2017
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Variations for Phace Association

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ClinVar genetic disease variations for Phace Association:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)SNV Pathogenic/Likely pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006

Copy number variations for Phace Association from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 220052 7 133600015 133700204 Deletion SLC35B4 PHACE syndrome
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Expression for Phace Association

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Search GEO for disease gene expression data for Phace Association.
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Pathways for Phace Association

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GO Terms for Phace Association

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Sources for Phace Association

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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